Diversity Matters in Research

Africans and African Americans are among the most underrepresented populations in genetic health research, yet they face some of the most daunting health outcomes.

It’s a bitter irony of the current state of research that among those most in need are the least served by our ever-expanding genetic knowledge. Africans, African Americans, as well as Latinos, still make up less than four percent of individuals included in genome-wide association studies, according toa recent study.

Genetic Diversity

This despite the fact that Africans and people of African ancestry are more genetically diverse than all other populations in the world combined. This is because humans originated in Africa and have lived there continuously for more than 200,000 years, adapting to the varied climates and regions. The rest of the world was populated by small groups of people who first migrated out of Africa some 60,000 to 130,000 years ago. In genetics this is called the Founder Effect. Including people of African ancestry in genetic study will likely uncover unique genetic variation that help scientists better understand conditions that affect people of African ancestry, who thus far have not benefited from many of the breakthroughs in genetic science.

Yielding Results

23andMe’s efforts to improve diversity in its research has yielded results.

The most promising is that we now have one of the largest groups, if not the largest, group of African Americans who been genotyped and phenotyped — phenotypes are observable traits and health conditions — and consented to participate in research.

This offers great potential to conduct crucial new genetic research. It means that more of our own research will be relevant to people with African ancestry. So for example, working with researchers at the University of Minnesota, we are now expanding a genetic study on alcohol and tobacco use and its relation to different diseases, to include people of African ancestry.

But 23andMe wants to ensure that other qualified researchers can also leverage this important resource to make discoveries. So this month, 23andMe is announcing that as part of its annual call forResearch Innovation Collaborations, we are encouraging qualified academic researchers to make proposals to leverage this important research cohort to learn more about health conditions that impact people with African ancestry.

Interested researchers can find out about the Research Innovation Collaborations here.. In genetics this is called the Founder Effect. Including people of African ancestry in genetic study will likely uncover unique genetic variation that help scientists better understand conditions that affect people of African ancestry, who thus far have not benefited from many of the breakthroughs in genetic science.

Improving diversity and inclusion of underrepresented populations in research doesn’t just benefit those groups. It benefits everyone. One of the best examples of this are medications to lower cholesterol for those at risk for heart disease. The insights that made these new drugs possible came because researchers found that some African Americans had variants in thePCSK9 gene that left them with very low cholesterol. That example is also an example of the beauty of genetics — something unique in you, or me, or a stranger across the globe, could benefit all of us.

All People

At 23andMe — where our mission is to help allpeople access, understand and benefit from the human genome — we have spent the last decade working to improve diversity in research. Despite those efforts — as well as the work of others like the National Institutes of Health’sAll of Us program — we still have a long way to go to ensure that all people are part of, and benefit from, the genetic revolution. News of promising developments in using gene therapy to treat sickle cell anemia and the chance that it could lead to a cure for the disease that plagues tens of thousands of Americans, gives us a glimpse of what is possible.

But as 23andMe commemorates Black History Month, it’s worth noting the steps we’ve taken in our efforts to improve diversity in our genetic research. We want to share with our customers who have contributed to research some of the recent accomplishments and new initiatives that are specific to Africans and African Americans, and how these efforts will contribute to important genetic research that will benefit not just people of African ancestry, but all of us.

Over the last decade with programs likeRoots into the Future, theAfrican Genetics Project, and theGlobal Genetics Project, 23andMe has diversified our reference populations to improve not just the customer experience, but improve the kind of research we do. And now with hundreds of thousands of customers with African ancestry who have consented to participate in research, 23andMe has one of the largest groups in the world of African Americans who have consented to have their genetic data and phenotypic data — information about traits and health conditions — used for research. (See sidebar)

Populations

Another program, called thePopulations Research Collaboration, involves partnering with academic researchers working across the globe to genotype people in communities that are underrepresented in genetic research, particularly those in Africa. As part of that initiative researchers have already done work among populations in Angola and the Democratic Republic of Congo. And there is 23andMe’sAfrican American Sequencing Project. Launched in 2016 the aim of this ambitious project was to recruit several thousand eligible customers to participate in the creation of an African American sequencing panel for research. That work, which was partially funded by the National Institutes of Health, has been done, and the de-identified genetic data will be made available through the National Center for Biotechnology Information’s database of Genotypes and Phenotypes (dbGaP) to other qualified and vetted genetic researchers at educational and research institutions around the world. This again will enable scientists outside of 23andMe to use this reference data improve the accuracy of their own health-related genetic research that is focused on African Americans.

These are just a few of the efforts 23andMe has undertaken to improve the diversity in its research, and allow other qualified researchers to leverage the research model we pioneered. But we also want to look beyond the genetic research, and understand a little more the impact DNA testing has on people’s perception of race and ethnicity. So last year 23andMe began a collaboration with researchers at Northwestern, to study just that, looking at the impact testing may has onattitudes about race. That work is ongoing.

Each of these efforts are small steps but taken together they mark a commitment 23andMe has to ensure that all populations are included in genetic research and benefit from it. Diversity in research makes it less likely that any group is left behind in this age of genomic discovery. Diversity in genetic research offers the promise that everyone will benefit from what we uncover about the genetic underpinnings of disease, as well as the genetic diversity of all humankind.

Some Questions Answered

Why are the vast majority of people included in genetic research of European ancestry?

Institutional racism often played a role, but some of the reasons have to do with how study groups were found in the early days of genome-wide association studies. In those cases, researchers would often studied those who were convenient to their work, meaning those who lived in Europe or the United States and those who lived near the universities where they worked. Other researchers used study groups that had already been established — like the asthe Framingham Heart Study — which included people of mostly European ancestry. But there are also social and historical reasons for the bias, including past abuses in medical research — like the U.S. Public Health Service Syphilis Study at Tuskegee (Tuskegee Syphilis Project) — that left African Americans less willing to participate. To protect the interests of all its research participants, all of 23andMe’s research is overseen by an independent Institutional Review Board (IRB), which must first approve of our research procedures before a study begins. Any changes to those procedures must be reviewed and approved by the IRB before being implemented.

Why does diversity in genetic research matter?

Most genetic studies have been conducted on people of European ancestry, so there is a gap in our understanding of the genetic factors that influence disease among those of other ancestries. 23andMe sees an urgent need to scale research within non-European populations so all people can benefit from breakthroughs in genetic science. 23andMe’s web-based, large-scale research model is ideally suited to tackling this problem. While researchers have made significant findings around the genetics of such conditions as Parkinson’s, Alzheimer’s disease and breast cancer, many of findings may not replicate in people who do not have European ancestry. In addition, as genetic studies are used to help identify new drug targets or the efficacy of certain medication, which may differ depending on an individual’s ancestry.

Do people of different ethnicities have different risks?

Some of those differences have to do with environmental factors, access to quality care and poverty, but genetics also plays a role. For example, recent studies among African American and Puerto Rican children with asthma have found that genetic differences may explain why a commonly used medication to treat asthma is less effective in those populations. There are other conditions that are also more prevalent among African Americans — asthma, diabetes, cancer and heart disease — and genetics may help explain some of those differences. In addition, by conducting studies in more ethnically diverse populations scientists and clinicians will be better able to offer more accurate estimates of diseases in populations other than those of European ancestry.

Can genetic studies of one ethnicity lead to insights into disease risk or treatments in other ethnicities?

Yes. One of the best examples of this is a study that found genetic variants in some African Americans that made them effectively lowered their level of LDL cholesterol making them less susceptible to heart disease. The findings around the variant in the the PCSK9 gene lead to the creation of drugs that target the gene as a way to control cholesterol.

What are some of the conditions 23andMe is studying that impact people of African descent at higher rates?

23andMe has published now more than 120 papers on a wide variety of conditions. As we add more diversity to those who are participating in research will be more able to ensure that those studies and findings will also be applicable to African Americans and other non-European populations. Most recently in 23andMe contributed data to research lead by scientists at the University of Minnesota focused on the genetics of alcohol and tobacco use. This offered new insight into addiction as well as diseases associated with alcohol and tobacco use. Now those same researchers are including African Americans as part of that study.

Why is the African population more genetically diverse than non-African populations?

Modern humans originated in Africa and have lived there continuously for more than 200,000 years, adapting to the varied climates and regions on the continent.

The rest of the world was populated by small groups of people who first migrated out of Africa some 60,000 to 130,000 years ago. In other words, when these small groups left, they only brought a subset of genetic variants with them, resulting in lower amounts of genetic diversity in non-African populations. In genetics this is called the Founder Effect.

How does 23andMe protect my data?

The privacy and security of our customers’ data are of the utmost importance to 23andMe. We understand that to be successful our customers must trust that 23andMe is protecting their data. Beyond employing robust authentication methods to access our systems, we also use software, hardware and physical security measures to protect customer data. Personally identifiable information is stripped from genetic information and stored in separate computing environments. All data used in research is de-identified and study in aggregate, and only data from customers who have consented to participate is used. Customers, even those who have consented to participate in research, must also explicitly agree in writing to have their individual information studied by our researchers. Finally, 23andMe has always been transparent about our privacy policies and research, offering customers a choice about whether they wish to participate or not, and ensuring that when we make new findings that we share that information back with our customers.

What are some of the health reports that 23andMe offers that are relevant to individuals of African descent?

We currently have a handful of Genetic Health Risk reports that are specifically relevant to people of African ancestry, but there are other reports that are relevant to people of any ancestry including African. 23andMe has a report on a genetic relatively common genetic condition known as G6PD Deficiency, which is most relevant to people of African ancestry. The condition is characterized by periods of anemia triggered by environmental factors. And 23andMe has two carrier status reports that are most relevant for people of African ancestry including a report on Sickle Cell anemia, and another on Familial Mediterranean Fever. Beyond the health and wellness reports, 23andMe has recently updated its ancestry reports to include 1000+ more regions including more regions within Africa. And 23andMe continues to add new reports and update the reports that it has for customers to improve the experience for everyone. For important information and limitations regarding other genetic health risk reports and carrier status reports, visit https://www.23andme.com/test-info/.

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Note that past blog posts may reflect versions of the product that may not be available currently. To learn more about our current product offerings please visit 23andMe.com. We invite your comments, but please be respectful. Abusive comments may be moderated. For help or questions visit Customer Care. Our contributors are scientists, researchers and writers here at 23andMe. We’re interested in helping people explore their own DNA and what it can tell them about themselves. Learn more at our website!